点突变的酶学检测技术

研究点突变有助于深入认识高等生物的遗传特性、解释个体的表型差异、揭示基因和蛋白质的正常功能、变异的成因以及不同个体对环境变化的响应机制,对功能基因组学研究和建立分子标记都具有重要意义。本文在概述点突变常用的非酶学检测技术基础上,重点介绍了不同酶学检测系统的原理和方法,并对影响点突变酶学检测效果的因素进行了讨论。

ENZYMATIC METHODS FOR DETECTION OF POINT MUTATIONS

The study of point mutation is significant to both functional genomic research and establishment of molecular markers,because it is helpful to understand genetic characteristics of higher organisms,to explain the phenotypic diversity,to reveal the normal functions and variation causes of genes and proteins,and the response mechanism of different individuals to environmental changes.After a brief review on the methods of non-enzymatic mutation detection used frequently,we put emphasis on the principles and methods of different enzymatic systems and discussed factors that should be considered in the detection of point mutations by enzymatic methods.